Cape Coral woman with genetic ALS to test newly approved drug

In April, a new drug to help treat a rare form of ALS was given fast-track approval by the FDA, and it’s expected to change the lives of a small group of patients. One of those patients lives in Cape Coral, and she shared her story exclusively with WINK News.

Amanda Sifford’s family tree has been haunted by an incurable disease that took the lives of many of her relatives.

“My father had ALS; he passed away in May of 2013,” Sifford said. “My grandfather was one of nine, I believe, and seven have it. So, when you look down their family lines, like my grandmother had three kids, all three passed from ALS… so, my two aunts and my father.”

Nobody knows why it struck them. ALS is largely a mystery.

“Most of the time, we do not know what causes or what predisposes that person to ALS,” said Dr. Bryant Vuong, an expert in physical medicine and rehabilitation as well as neuromuscular medicine at Lee Health. “It can be genetic, it can be exposure, it can also be through trauma.”

Vuong works closely with patients at Lee Health’s ALS clinic. A neuromuscular disease, ALS kills motor neurons in the brain and spinal cord, ending in the patient’s death.

“Unfortunately, it is progressive,” Vuong said. “It continues to weaken the body, weaken the arm, the legs, the voice, the oral pharynx, and even the diaphragm… which ultimately leads to a patient’s demise.”

Sifford knows this story well. She saw ALS slowly sap the life from her father.

“To see somebody, they’re just trapped in their body and not able to do anything,” Sifford said. “And, I mean, my dad was only 69.”

The number of ALS cases in Sifford’s family points to a rare, genetic form of the disease. It only accounts for 2% of cases—around 330 people in the entire U.S. who have a certain genetic mutation. Amanda Sifford is one of them.

“I knew this was my future,” Sifford said. “I knew that ALS was. I’ve known.”

She has few symptoms, mostly muscle spasms in her hands and feet, along with weakness. But, more than anything, Sifford has hope. The drug that was given fast-track approval by the FDA potentially slows the disease’s progression by addressing the faulty gene.

“The function of this drug is to reduce the amount of SOD1 mutated gene in the cerebral spinal fluid,” Vuong said.

Given her family history, Sifford took part in a research study. She will be among the first to get the groundbreaking drug, an option no one in her family ever had.

“Just to know that I would have somewhat of a normal life would be… it’s unthinkable at this point,” Sifford said. “It still feels like a dream.”

Sifford’s medical team is waiting to get the drug, called tofersen, during the study phase. Patients will get it injected into their spinal canals each month.